Mutagenetix > Incidental Mutation

Incidental Mutation 'R5039:Gm17535'

450621

Institutional Source

Beutler Lab

Gene Symbol

Gm17535

Ensembl Gene

ENSMUSG00000096736

Gene Name

predicted gene, 17535

Synonyms

MMRRC Submission

042629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R5039 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3034599-3035805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3035786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 218 (L218H)

Ref Sequence

ENSEMBL: ENSMUSP00000135988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099042] [ENSMUST00000099051] [ENSMUST00000099056] [ENSMUST00000155807] [ENSMUST00000177969] [ENSMUST00000178641] [ENSMUST00000179264] [ENSMUST00000179839]

AlphaFold

J3KMR8

Predicted Effect

probably benign
Transcript: ENSMUST00000099042

SMART Domains

Protein: ENSMUSP00000096640
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	47	9.09e-8	PROSPERO
transmembrane domain	76	98	N/A	INTRINSIC
internal_repeat_1	117	164	9.09e-8	PROSPERO
transmembrane domain	195	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099051

SMART Domains

Protein: ENSMUSP00000096650
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	2	38	6.22e-5	PROSPERO
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	90	109	N/A	INTRINSIC
internal_repeat_1	118	174	6.22e-5	PROSPERO
transmembrane domain	185	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099056

SMART Domains

Protein: ENSMUSP00000096655
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	50	9.96e-8	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	223	9.96e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000155807

SMART Domains

Protein: ENSMUSP00000136448
Gene: ENSMUSG00000096201

Domain	Start	End	E-Value	Type
internal_repeat_1	1	48	2.67e-7	PROSPERO
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	165	2.67e-7	PROSPERO
transmembrane domain	186	208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177969

SMART Domains

Protein: ENSMUSP00000137129
Gene: ENSMUSG00000096201

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	2.44e-6	PROSPERO
transmembrane domain	69	91	N/A	INTRINSIC
internal_repeat_1	117	185	2.44e-6	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178641
AA Change: L218H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135988
Gene: ENSMUSG00000096736
AA Change: L218H

Domain	Start	End	E-Value	Type
internal_repeat_1	1	49	1.86e-5	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	185	1.86e-5	PROSPERO
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179264

SMART Domains

Protein: ENSMUSP00000137451
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	43	5.09e-6	PROSPERO
transmembrane domain	69	91	N/A	INTRINSIC
internal_repeat_1	117	179	5.09e-6	PROSPERO
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181572

Predicted Effect

probably benign
Transcript: ENSMUST00000179839

SMART Domains

Protein: ENSMUSP00000136837
Gene: ENSMUSG00000095891

Domain	Start	End	E-Value	Type
internal_repeat_1	1	46	1.07e-7	PROSPERO
transmembrane domain	67	89	N/A	INTRINSIC
internal_repeat_1	117	182	1.07e-7	PROSPERO
transmembrane domain	197	219	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,192,863 (GRCm39)	A161V	probably damaging	Het
Anapc2	T	C	2: 25,164,808 (GRCm39)	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,269,961 (GRCm39)	D396G	probably benign	Het
Ark2c	A	G	18: 77,550,608 (GRCm39)	S107P	probably damaging	Het
Axl	C	T	7: 25,485,340 (GRCm39)	V163M	probably damaging	Het
Blm	G	A	7: 80,155,621 (GRCm39)	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,968,162 (GRCm39)	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,306,514 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,890,429 (GRCm39)		probably null	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ctr9	C	A	7: 110,642,064 (GRCm39)	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,026,587 (GRCm39)	D398G	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,734 (GRCm39)		probably null	Het
Dock4	C	A	12: 40,867,745 (GRCm39)	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,141,043 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,063,726 (GRCm39)		probably null	Het
Fanca	T	C	8: 124,010,785 (GRCm39)	D908G	probably benign	Het
Gm3633	A	C	14: 42,461,161 (GRCm39)	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,232,851 (GRCm39)		noncoding transcript	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gpr139	A	G	7: 118,744,165 (GRCm39)	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,425,014 (GRCm39)	T13K	probably benign	Het
Itgb2l	T	C	16: 96,226,205 (GRCm39)	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,779,724 (GRCm39)	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,230,962 (GRCm39)	G663D	probably damaging	Het
Lama1	A	G	17: 68,052,888 (GRCm39)	D407G	possibly damaging	Het
Macf1	T	C	4: 123,405,013 (GRCm39)	K391R	probably damaging	Het
Magi3	A	T	3: 104,013,107 (GRCm39)	S127T	probably damaging	Het
Map2	A	T	1: 66,477,955 (GRCm39)	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,658,616 (GRCm39)	D447G	probably damaging	Het
Ndufb7	A	G	8: 84,298,094 (GRCm39)		probably benign	Het
Nt5e	T	A	9: 88,245,634 (GRCm39)	N301K	probably benign	Het
Or10d4b	A	T	9: 39,534,856 (GRCm39)	T146S	possibly damaging	Het
Or8g27	T	A	9: 39,129,410 (GRCm39)	Y252*	probably null	Het
Pcdh10	A	G	3: 45,336,296 (GRCm39)	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,709,305 (GRCm39)	V670A	probably benign	Het
Phf8-ps	A	C	17: 33,286,734 (GRCm39)	C23G	probably damaging	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Ric3	G	C	7: 108,637,930 (GRCm39)	S274R	probably benign	Het
Rimbp3	A	G	16: 17,031,195 (GRCm39)	T1540A	probably damaging	Het
Rp1l1	A	T	14: 64,268,805 (GRCm39)	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,603,399 (GRCm39)	Y140C	probably damaging	Het
Ssb	A	T	2: 69,696,581 (GRCm39)	E38D	possibly damaging	Het
Syt14	A	T	1: 192,709,292 (GRCm39)	I16N	probably damaging	Het
Tet3	T	C	6: 83,352,878 (GRCm39)	T973A	probably damaging	Het
Tial1	T	C	7: 128,045,692 (GRCm39)		probably benign	Het
Tnfrsf1a	A	G	6: 125,337,675 (GRCm39)	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,652,879 (GRCm39)	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,062,267 (GRCm39)	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,089,013 (GRCm39)	D1006G	probably damaging	Het

Other mutations in Gm17535

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Gm17535	APN	9	3,035,111 (GRCm39)	missense	probably benign
R0153:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R0646:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1286:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R1403:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1404:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1406:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R1422:Gm17535	UTSW	9	3,035,804 (GRCm39)	missense	probably null	0.86
R4827:Gm17535	UTSW	9	3,035,786 (GRCm39)	missense	probably benign
R5802:Gm17535	UTSW	9	3,035,758 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- TCACGTCCTAAAGTGTGTATTTCTCA -3'
(R):5'- CCACTGTAGGACATGGAATATAGCAA -3'

Sequencing Primer
(F):5'- CCATGTCCTACAGTGGAAATTTC -3'
(R):5'- GGACATGGAATATAGCAAGAAAACTG -3'

Posted On

2016-12-27